Erythropoietic Protoporphyria Clinical Trial
Official title:
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP) for clinical, biochemical, and genetic studies. The long-term objectives are (1) to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with erythropoietic protoporphyria, (2) to systematically investigate the psychological effects of the erythropoietic protoporphyrias on children and adults, and (3) to investigate the correlation between the identified genotypes and the resulting clinical presentation, also determining the possible interaction of other genetic markers.
The porphyrias are a group of rare metabolic diseases that may present in childhood or adult
life and are due to deficiencies of enzymes in the heme biosynthetic pathway. The most common
manifestations are related to accumulation of intermediates in the pathway and usually occur
as acute neurological attacks (as in the acute or hepatic porphyrias), or cutaneous
photosensitivity (as in the cutaneous porphyrias, including the erythropoietic
protoporphyrias). Multiple mutations have been identified in each of the porphyrias. The risk
of disability or death from these disorders is significant, in part because diagnosis is
often delayed due to lack of adoption of diagnostic testing in clinical practice. Moreover,
the natural history of these disorders is not well described and it is not known what
determines differences in outcomes. New therapies are needed. For existing therapies,
high-quality evidence on short and long term efficacy and safety is generally lacking.
Therefore, the purpose of this study of a large group of patients with EPP and XLP is to
provide a better understanding of the natural history of these disorders, as affected by
available therapies, and to aid in developing new forms of treatment. Much of the data
collected on subjects as participants in the Longitudinal Study of the Porphyrias will be
accessed for this study specific to the investigation of the erythropoietic protoporphyrias.
To maximize the information that can be informative in our objectives, additional data will
be collected, including additional biochemical findings and EPP-specific psychosocial
parameters.
The Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) established a
Rare Diseases Clinical Research Network (RDCRN) in collaboration with other NIH Institutes
and currently has funded 19 rare diseases clinical research consortia and one Data Management
and Coordinating Center. The Porphyrias Consortium was created as part of the RDCRN, to study
the human porphyrias. The Porphyrias Consortium is a consortium of the academic institutions
listed in the participating institutions table. All Centers in the Porphyrias Consortium are
participating in this study. Additional centers may be added if funding is available.
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Status | Clinical Trial | Phase | |
---|---|---|---|
Completed |
NCT00979745 -
Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)
|
Phase 3 | |
Active, not recruiting |
NCT05308472 -
Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and PPIX Concentrations in Participants With EPP
|
Phase 2 | |
Completed |
NCT00004831 -
Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria
|
N/A | |
Completed |
NCT05572125 -
Iron Therapy in Erythropoietic Protoporphyria
|
||
Completed |
NCT01605136 -
Phase III Confirmatory Study in Erythropoietic Protoporphyria
|
Phase 3 | |
Completed |
NCT01422915 -
Sorbent Therapy of the Cutaneous Porphyrias
|
Phase 2/Phase 3 | |
Completed |
NCT04053270 -
Multicentre Phase III Erythropoietic Protoporphyria Study
|
Phase 3 | |
Completed |
NCT00004940 -
Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria
|
Phase 3 | |
Recruiting |
NCT06388642 -
Pharmacokinetics of Afamelanotide in EPP Patients
|
Phase 1/Phase 2 | |
Recruiting |
NCT05020184 -
Effect of Oral Cimetidine in the Protoporphyrias
|
Phase 2 | |
Completed |
NCT04578496 -
A Safety Extension Study in Patients With Erythropoietic Protoporphyria (EPP)
|
Phase 3 | |
Recruiting |
NCT00206869 -
Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria
|
N/A | |
Recruiting |
NCT05780840 -
Protection Against Visible Light by Dihydroxyacetone in Erythropoietic Protoporphyria
|
N/A | |
Completed |
NCT02979249 -
Oral Iron for Erythropoietic Protoporphyrias
|
N/A | |
Enrolling by invitation |
NCT05883748 -
Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP
|
Phase 2/Phase 3 | |
Completed |
NCT01097044 -
Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)
|
Phase 2 | |
Completed |
NCT03682731 -
Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria
|